Table 1.
Characteristics of human ABC transporters.
| Gene * | Chromosomal Location * | Gene (bp) * | Protein Name * | Protein (AA) * | Subcellular Localization * | Physiological Substrates/Function * | Examples of Translocated Drugs * | Pathology * |
|---|---|---|---|---|---|---|---|---|
| ABCA1 | 9q31.1 | 147,245 | ABC1 | 2261 | PM | cholesterol, phospholipids, sphingomyelin | statins, glyburide, fenofibrate | Tangier disease, hypercholesterolemia |
| ABCA2 | 9q34.3 | 21,748 | ABC2 | 2435 | lysosome | cholesterol, sterols | Pulmonary surfactant metabolism dysfunction | |
| ABCA3 | 16p13.3 | 64,869 | ABC3 | 1704 | lamellar bodies | phospholipids, sphingomyelin | imatinib, gleevec | Pulmonary surfactant metabolism dysfunction |
| ABCA4 | 1p22.1 | 128,315 | ABCR | 2273 | PM | retinoids, phospholipids | Stargardt disease, retinal dystrophy | |
| ABCA5 | 17q24.3 | 82,934 | ABCA5 | 1642 | lysosome | cholesterol | tacrolimus | Gingival fibromatosis with hypertrichosis |
| ABCA6 | 17q24.2-q24.3 | 63,904 | ABCA6 | 1617 | nucleus, PM | cholesterol, taurocholate | ||
| ABCA7 | 19p13.3 | 25,472 | ABCX | 2146 | PM | phospholipids | Alzheimer disease | |
| ABCA8 | 17q24.2 | 88,122 | ABCA8 | 1581 | PM | cholesterol | ||
| ABCA9 | 17q24.2 | 92,956 | ABCA9 | 1624 | PM | macrophage lipid homeostasis | ||
| ABCA10 | 17q24.3 | 97,633 | ABCA10 | 1543 | PM | macrophage lipid homeostasis | ||
| ABCA12 | 2q35 | 207,039 | ABCA12 | 2595 | PM, lamellar bodies | phospholipids | Ichthyosis | |
| ABCA13 | 7p12.3 | 476,050 | ABCA13 | 5058 | PM | unknown | ||
| ABCB1 | 7q21.12 | 209,691 | MDR1 | 1280 | PM | phospholipids, sphingolipids, bile salts | anthracyclines, nucleoside analogs, taxanes, vinca alkaloids, statins | |
| ABCB2 | 6p21.32 | 8770 | TAP1 | 808 | ER | antigen processing and presentation | lapatinib | |
| ABCB3 | 6p21.32 | 16,991 | TAP2 | 686 | ER | antigen processing and presentation | ||
| ABCB4 | 7q21.12 | 78,739 | MDR3 | 1286 | PM | phospholipids, bile salts | colchicine, anthracyclines, silodosin | Cholecystitis, familial intrahepatic cholestasis |
| ABCB5 | 7p21.1 | 161,832 | ABCB5 | 1257 | PM | glutathione level modulator | bilastine, dasabuvir, delafloxacin, naldemedine | |
| ABCB6 | 2q35 | 9225 | MTABC3 | 842 | mitochondrion, lysosome, Golgi | iron homeostasis | Dyschromatosis universalis hereditaria, familial pseudohyperkalemia, microphthalmia | |
| ABCB7 | Xq13.3 | 103,561 | ABC7 | 752 | mitochondrion | iron homeostasis | Spinocerebellar ataxia, sideroblastic anemia | |
| ABCB8 | 7q36.1 | 19,361 | MABC1 | 735 | mitochondrion | iron homeostasis | doxorubicin | |
| ABCB9 | 12q24.31 | 62,942 | TAPL | 766 | lysosome | cytosolic peptides | ||
| ABCB10 | 1q42.13 | 42,114 | MTABC2 | 738 | mitochondrion | iron homeostasis | ||
| ABCB11 | 2q31.1 | 112,089 | BSEP | 1321 | PM | phospholipids, bile salts | anthracyclines, nucleoside analogs, taxanes, vinca alkaloids, statins | Familial intrahepatic cholestasis |
| ABCC1 | 16p13.11 | 193,498 | MRP1 | 1531 | PM | phospholipids, bile salts, steroids, cobalamin | irinotecan, anthracyclines, taxanes, vinca alkaloids, statins | Pseudoxanthoma elasticum |
| ABCC2 | 10q24.2 | 69,979 | MRP2 | 1545 | PM | bilirubin, bile salts | irinotecan, anthracyclines, taxanes, vinca alkaloids, platinum derivatives, nucleoside analogs | Dubin-Johnson syndrome |
| ABCC3 | 17q21.33 | 57,476 | MRP3 | 1527 | PM | bile salts | anthracyclines, vinca alkaloids, platinum derivatives, nucleoside analogs | |
| ABCC4 | 13q32.1 | 281,618 | MRP4 | 1325 | PM | bile salts, uric acid | anthracyclines, cyclophosphamide, platinum derivatives, nucleoside analogs | |
| ABCC5 | 3q27.1 | 98,082 | MRP5 | 1437 | PM | bile salts, folate, glutamate | irinotecan, platinum derivatives, nucleoside analogs, atorvastatin, probenecid, rifampin | |
| ABCC6 | 16p13.11 | 74,746 | MRP6 | 1503 | PM, nucleus | putative biomineralization modulator | anthracyclines, platinum derivatives, taxanes, vinca alkaloids, etoposide, TKIs | Pseudoxanthoma elasticum, arterial calcifications |
| ABCC7 | 7q31.2 | 250,188 | CFTR | 1480 | all compartments | ATP-gated chloride channel | glyburide, ibuprofen, felodipine | Cystic fibrosis, hereditary pancreatitis |
| ABCC8 | 11p15.1 | 83,961 | SUR1 | 1581 | PM | ATP-sensitive potassium channel regulation | glyburide, tolbutamide, tolazamide. | Neonatal diabetes mellitus, hyperinsulinemic hypoglycemia, familial hyperinsulinism |
| ABCC9 | 12p12.1 | 145,141 | SUR2 | 1549 | PM | ATP-sensitive potassium channel regulation | glyburide, nicorandil | Dilated cardiomyopathy, hypertrichotic osteochondrodysplasia |
| ABCC10 | 6p21.1 | 24,615 | MRP7 | 1492 | PM, lysosome | bile salts, steroids, glutathione conjugates | anthracyclines, nucleoside analogs, taxanes, vinca alkaloids, etoposide | |
| ABCC11 | 16q12.1 | 80,659 | MRP8 | 1382 | PM | bile salts, steroids, cyclic nucleotides, glutathione conjugates, folate, taurocholate | estrogens, fluorouracil, methotrexate, probenecid, indomethacin | |
| ABCC12 | 16q12.1 | 73,046 | MRP9 | 1359 | PM | unknown | ||
| ABCD1 | Xq28 | 19,912 | ALD | 745 | peroxisome | very long chain fatty acids | ergocalciferol | Adrenoleukodystrophy, Addison’s disease |
| ABCD2 | 12q12 | 101,296 | ALDL1 | 740 | peroxisome | very long chain fatty acids | ||
| ABCD3 | 1p21.3 | 100,581 | PXMP1 | 659 | peroxisome | very long and long chain fatty acids, branched-chain fatty acids, bile acid intermediates | Bile acid synthesis defect | |
| ABCD4 | 14q24.3 | 17,788 | PXMP1L | 606 | lysosome | cobalamin | Methylmalonic aciduria and homocystinuria | |
| ABCE1 | 4q31.21 | 31,593 | RNASEL1 | 599 | mitochondrion, cytosol | translation and ribosome biogenesis | ||
| ABCF1 | 6p21.33 | 25,804 | ABC50 | 845 | nucleus, cytosol | translation initiation | ||
| ABCF2 | 7q36.1 | 19,545 | ABC28 | 623 | mitochondrion, cytosol | cell volume regulation | ||
| ABCF3 | 3q27.1 | 8430 | ABCF3 | 709 | nucleus, cytosol | putative translational regulation and apoptosis | ||
| ABCG1 | 21q22.3 | 104,699 | ABC8 | 678 | ER, PM | cholesterol, phospholipids, sterols | irinotecan, fluorouracil, leucovorin | Tangier disease, sitosterolemia |
| ABCG2 | 4q22.1 | 141,154 | BCRP | 655 | PM, nucleus | sterols, heme | anthracyclines, platinum derivatives, nucloside analogs, taxanes, vinca alkaloids, etoposide | Tangier disease, sitosterolemia |
| ABCG4 | 11q23.3 | 13,655 | WHITE2 | 646 | ER, PM | lipids, cholesterol, sterols | ||
| ABCG5 | 2p21 | 32,711 | sterolin 1 | 651 | PM | cholesterol, sterols | ezetimibe | Sitosterolemia |
| ABCG8 | 2p21 | 51,236 | sterolin 2 | 673 | PM | cholesterol, sterols | ezetimibe, atorvastatin | sitosterolemia, atherosclerosis |
Footnotes: * The table was prepared by help of OMIM, GeneCards, ClinVar and PubMed databases; Unknown features or no data in grey; Abbreviations: AA, amino acids, bp, base pairs, ER, endoplasmic reticulum, PM, plasma membrane, TKIs, tyrosine kinase inhibitors.